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TissGeneSummary for CHRNA4 |
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Basic gene information | Gene symbol | CHRNA4 |
Gene name | cholinergic receptor, nicotinic, alpha 4 (neuronal) | |
Synonyms | BFNC|EBN|EBN1|NACHR|NACHRA4|NACRA4 | |
Cytomap | UCSC genome browser: 20q13.33 | |
Type of gene | protein-coding | |
RefGenes | NM_000744.6, NM_001256573.1,NR_046317.1, | |
Description | cholinergic receptor, nicotinic, alpha polypeptide 4neuronal acetylcholine receptor subunit alpha-4neuronal nicotinic acetylcholine receptor alpha-4 subunit | |
Modification date | 20141222 | |
dbXrefs | MIM : 118504 | |
HGNC : HGNC | ||
Ensembl : ENSG00000101204 | ||
HPRD : 00333 | ||
Vega : OTTHUMG00000033080 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CHRNA4 | |
BioGPS: 1137 | ||
Pathway | NCI Pathway Interaction Database: CHRNA4 | |
KEGG: CHRNA4 | ||
REACTOME: CHRNA4 | ||
Pathway Commons: CHRNA4 | ||
Context | iHOP: CHRNA4 | |
ligand binding site mutation search in PubMed: CHRNA4 | ||
UCL Cancer Institute: CHRNA4 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGLIHC | |
Reference showing the relevant tissue of CHRNA4 | ||
Description by TissGene annotations | Protective TissGene in RFS Cancer gene Fused withTSGene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
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GO ID | GO term | PubMed ID | GO:0001666 | response to hypoxia | 12189247 | GO:0007165 | signal transduction | 8906617 | GO:0035094 | response to nicotine | 12189247 | GO:0098655 | cation transmembrane transport | 8906617 | GO:0001666 | response to hypoxia | 12189247 | GO:0007165 | signal transduction | 8906617 | GO:0035094 | response to nicotine | 12189247 | GO:0098655 | cation transmembrane transport | 8906617 |
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TissGeneExp for CHRNA4 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LUAD | -2.643630367 | -1.187275195 | -1.456355172 | 1.54E-09 | 7.96E-09 |
LIHC | 1.37699115 | 5.06072115 | -3.68373 | 4.41E-08 | 3.37E-07 |
THCA | -0.391526714 | 3.125410574 | -3.516937288 | 1.87E-15 | 2.56E-14 |
KIRC | -2.344856516 | 1.32608515 | -3.670941667 | 3.89E-17 | 2.33E-16 |
KICH | -3.19002685 | 1.07732115 | -4.267348 | 2.77E-09 | 1.60E-08 |
KIRP | -2.491636725 | 2.857269525 | -5.34890625 | 4.21E-16 | 1.45E-14 |
ESCA | -2.831187577 | -1.338778486 | -1.492409091 | 0.00473 | 0.03832 |
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TissGene-miRNA for CHRNA4 |
![]() (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for CHRNA4 |
TissGeneSNV for CHRNA4 |
![]() Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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![]() (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.A567V | STAD | 3 |
p.P361L | PRAD | 2 |
p.G207N | LUAD | 1 |
p.V325D | SKCM | 1 |
p.R354H | SKCM | 1 |
p.R513S | LUSC | 1 |
p.I163V | LUAD | 1 |
p.Q428R | SKCM | 1 |
p.T324A | LUAD | 1 |
p.P404L | SKCM | 1 |
p.V287I | HNSC | 1 |
p.A36T | STAD | 1 |
p.E569K | LIHC | 1 |
p.C533R | LGG | 1 |
p.T276M | STAD | 1 |
p.E373D | LUAD | 1 |
p.A34S | LUAD | 1 |
p.P102S | SKCM | 1 |
p.F265S | STAD | 1 |
p.P393L | ESCA | 1 |
p.G207S | LUAD | 1 |
p.T293I | SKCM | 1 |
p.P404S | SKCM | 1 |
p.P451L | PAAD | 1 |
p.P253T | COAD | 1 |
p.E37K | BLCA | 1 |
p.L63I | THYM | 1 |
p.S280F | SKCM | 1 |
p.S473T | LUAD | 1 |
p.R600H | STAD | 1 |
p.R566Q | KIRC | 1 |
p.I248M | LUAD | 1 |
p.T276M | COAD | 1 |
p.E270K | PAAD | 1 |
p.R336C | STAD | 1 |
p.V210F | LUAD | 1 |
p.M605I | HNSC | 1 |
p.S396R | LUAD | 1 |
p.R549P | LIHC | 1 |
p.V262M | UCEC | 1 |
p.D164N | BLCA | 1 |
p.R487W | PAAD | 1 |
p.D496V | COAD | 1 |
p.R369W | UCEC | 1 |
p.L617F | LIHC | 1 |
p.C271Y | COAD | 1 |
p.R333H | BRCA | 1 |
p.L560M | LIHC | 1 |
p.S300L | BLCA | 1 |
p.M177I | SKCM | 1 |
p.D75E | LUAD | 1 |
p.I372V | LGG | 1 |
p.P528L | SKCM | 1 |
p.T337M | ESCA | 1 |
p.D164N | COAD | 1 |
p.W591* | HNSC | 1 |
p.S284L | STAD | 1 |
p.G625D | GBM | 1 |
p.A509T | READ | 1 |
p.F167V | HNSC | 1 |
p.R53Q | LUAD | 1 |
p.T136I | SKCM | 1 |
p.P494S | SKCM | 1 |
p.R240Q | SARC | 1 |
p.V478M | COAD | 1 |
p.I275M | SKCM | 1 |
p.R336H | UCEC | 1 |
p.I163T | KIRP | 1 |
p.P451L | KIRP | 1 |
p.R333H | LUAD | 1 |
p.G207D | LUAD | 1 |
p.K140E | UCEC | 1 |
p.N107S | ESCA | 1 |
p.A56V | LIHC | 1 |
p.V212M | UCEC | 1 |
p.S46F | SKCM | 1 |
p.N174H | SKCM | 1 |
p.A56S | LUAD | 1 |
p.P523S | SKCM | 1 |
p.N193S | SKCM | 1 |
p.E37V | LUAD | 1 |
p.R383H | STAD | 1 |
p.G616C | LIHC | 1 |
p.I574T | SKCM | 1 |
p.V615M | SKCM | 1 |
p.P444H | LUAD | 1 |
p.F348V | LUAD | 1 |
p.R336H | STAD | 1 |
p.D497N | SKCM | 1 |
p.S586L | SKCM | 1 |
p.R221G | HNSC | 1 |
p.S539L | STAD | 1 |
p.P10H | UCEC | 1 |
p.P243S | THYM | 1 |
p.N514S | SKCM | 1 |
p.L355Q | KIRC | 1 |
p.D599N | SKCM | 1 |
p.N174K | LUSC | 1 |
p.R345C | SARC | 1 |
p.D202V | SARC | 1 |
p.F245L | LUAD | 1 |
p.W604* | SKCM | 1 |
p.D60E | STAD | 1 |
p.V165I | COAD | 1 |
p.T217S | BRCA | 1 |
p.R197C | READ | 1 |
p.R485W | BLCA | 1 |
p.P556T | LUAD | 1 |
p.M194V | KIRP | 1 |
p.T176A | COAD | 1 |
p.T234A | LUAD | 1 |
p.W151L | LUSC | 1 |
p.P562L | STAD | 1 |
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TissGeneCNV for CHRNA4 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for CHRNA4 |
![]() (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | AW804554 | PRKCB-CHRNA4 | chr16:24175367 | chr20:61993559 |
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TissGeneNet for CHRNA4 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for CHRNA4 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for CHRNA4 |
TissGeneDrug for CHRNA4 |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00514 | Dextromethorphan | Antagonist | Small molecule | Approved |
DB00674 | Galantamine | Allosteric modulator | Small molecule | Approved |
DB00849 | Methylphenobarbital | Antagonist | Small molecule | Approved |
DB01174 | Phenobarbital | Antagonist | Small molecule | Approved |
DB01354 | Heptabarbital | Antagonist | Small molecule | Approved |
DB01355 | Hexobarbital | Antagonist | Small molecule | Approved |
DB00237 | Butabarbital | Antagonist | Small molecule | Approved|Illicit |
DB00241 | Butalbital | Antagonist | Small molecule | Approved|Illicit |
DB00306 | Talbutal | Antagonist | Small molecule | Approved|Illicit |
DB01351 | Amobarbital | Antagonist | Small molecule | Approved|Illicit |
DB01352 | Aprobarbital | Antagonist | Small molecule | Approved|Illicit |
DB01353 | Butethal | Antagonist | Small molecule | Approved|Illicit |
DB01273 | Varenicline | Partial agonist | Small molecule | Approved|Investigational |
DB09028 | Cytisine | Agonist | Small molecule | Approved|Investigational |
DB00312 | Pentobarbital | Antagonist | Small molecule | Approved|Vet_approved |
DB00418 | Secobarbital | Antagonist | Small molecule | Approved|Vet_approved |
DB00599 | Thiopental | Antagonist | Small molecule | Approved|Vet_approved |
DB00794 | Primidone | Antagonist | Small molecule | Approved|Vet_approved |
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TissGeneDisease for CHRNA4 |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C3696898 | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | 41 | BeFree |
umls:C0028043 | Nicotine Dependence | 26 | BeFree |
umls:C0014544 | Epilepsy | 17 | BeFree,GAD |
umls:C0085541 | Epilepsy, Frontal Lobe | 15 | BeFree,CTD_human,GAD,LHGDN |
umls:C0242379 | Malignant neoplasm of lung | 14 | BeFree |
umls:C0684249 | Carcinoma of lung | 14 | BeFree |
umls:C1263846 | Attention deficit hyperactivity disorder | 11 | BeFree,CTD_human,GAD |
umls:C0220669 | Familial benign neonatal epilepsy | 9 | BeFree |
umls:C0002395 | Alzheimer's Disease | 8 | BeFree,GAD,LHGDN |
umls:C0036341 | Schizophrenia | 8 | BeFree,GAD,LHGDN |
umls:C0014547 | Epilepsies, Partial | 7 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 7 | GAD |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 6 | BeFree |
umls:C0036572 | Seizures | 6 | BeFree,CTD_human |
umls:C0001973 | Alcoholic Intoxication, Chronic | 4 | BeFree,GAD |
umls:C0004936 | Mental disorders | 4 | BeFree |
umls:C0014548 | Epilepsy, Generalized | 4 | BeFree,LHGDN |
umls:C0270850 | Idiopathic generalized epilepsy | 4 | BeFree |
umls:C0270853 | Myoclonic Epilepsy, Juvenile | 4 | BeFree,GAD |
umls:C0391957 | idiopathic epilepsy | 4 | BeFree |
umls:C0497327 | Dementia | 4 | BeFree,LHGDN |
umls:C0011265 | Presenile dementia | 3 | BeFree |
umls:C0027765 | nervous system disorder | 3 | BeFree,CTD_human |
umls:C0003469 | Anxiety Disorders | 2 | BeFree |
umls:C0003886 | Arthrogryposis | 2 | BeFree |
umls:C0007102 | Malignant tumor of colon | 2 | BeFree |
umls:C0011570 | Mental Depression | 2 | BeFree |
umls:C0011581 | Depressive disorder | 2 | BeFree |
umls:C0024117 | Chronic Obstructive Airway Disease | 2 | BeFree,GAD |
umls:C0030567 | Parkinson Disease | 2 | GAD |
umls:C0040332 | Tobacco Dependence | 2 | BeFree,CLINVAR |
umls:C0265482 | Ring Chromosome 20 Syndrome | 2 | BeFree |
umls:C0338656 | Impaired cognition | 2 | BeFree |
umls:C0596263 | Carcinogenesis | 2 | BeFree |
umls:C0699790 | Colon Carcinoma | 2 | BeFree |
umls:C0751882 | Myasthenic Syndromes, Congenital | 2 | BeFree |
umls:C1838049 | Epilepsy, Nocturnal Frontal Lobe, Type 1 | 2 | CLINVAR,CTD_human,UNIPROT |
umls:C1851759 | ELECTROENCEPHALOGRAPHIC VARIANT PATTERN 1 (disorder) | 2 | BeFree |
umls:C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | 2 | BeFree |
umls:C0001418 | Adenocarcinoma | 1 | BeFree |
umls:C0004352 | Autistic Disorder | 1 | CTD_human,LHGDN |
umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
umls:C0008073 | Developmental Disabilities | 1 | CTD_human |
umls:C0009241 | Cognition Disorders | 1 | BeFree |
umls:C0009952 | Febrile Convulsions | 1 | BeFree,GAD |
umls:C0011615 | Dermatitis, Atopic | 1 | BeFree |
umls:C0011847 | Diabetes | 1 | BeFree |
umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | BeFree |
umls:C0012860 | DNA Damage | 1 | GAD |
umls:C0013080 | Down Syndrome | 1 | LHGDN |
umls:C0013146 | Drug abuse | 1 | BeFree |
umls:C0013421 | Dystonia | 1 | CTD_human |
umls:C0013595 | Eczema | 1 | BeFree |
umls:C0018801 | Heart failure | 1 | RGD |
umls:C0019693 | HIV Infections | 1 | BeFree |
umls:C0024623 | Malignant neoplasm of stomach | 1 | BeFree |
umls:C0026106 | Mild Mental Retardation | 1 | BeFree |
umls:C0026896 | Myasthenia Gravis | 1 | BeFree |
umls:C0028754 | Obesity | 1 | BeFree |
umls:C0030319 | Panic Disorder | 1 | BeFree,GAD |
umls:C0033054 | Prenatal Exposure Delayed Effects | 1 | GAD |
umls:C0038644 | Sudden infant death syndrome | 1 | BeFree |
umls:C0041696 | Unipolar Depression | 1 | BeFree |
umls:C0043094 | Weight Gain | 1 | GAD |
umls:C0085084 | Motor Neuron Disease | 1 | GAD |
umls:C0085400 | Neurofibrillary degeneration (morphologic abnormality) | 1 | BeFree |
umls:C0087169 | Withdrawal Symptoms | 1 | BeFree |
umls:C0149782 | Squamous cell carcinoma of lung | 1 | BeFree |
umls:C0149925 | Small cell carcinoma of lung | 1 | BeFree |
umls:C0150055 | Chronic pain | 1 | BeFree |
umls:C0233794 | Memory impairment | 1 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0311277 | Obesity, Abdominal | 1 | BeFree |
umls:C0333463 | Senile Plaques | 1 | BeFree |
umls:C0339789 | Congenital deafness | 1 | BeFree |
umls:C0344307 | Absence of pain sensation | 1 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
umls:C0393719 | Nocturnal epilepsy | 1 | BeFree |
umls:C0424101 | Inattention | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C0687132 | heavy drinking | 1 | BeFree |
umls:C0699791 | Stomach Carcinoma | 1 | BeFree |
umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
umls:C0751785 | Unverricht-Lundborg Syndrome | 1 | BeFree |
umls:C0752347 | Lewy Body Disease | 1 | BeFree |
umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
umls:C1269683 | Major Depressive Disorder | 1 | BeFree |
umls:C1270972 | Mild cognitive disorder | 1 | BeFree |
umls:C1458155 | Mammary Neoplasms | 1 | BeFree |
umls:C1720983 | Channelopathies | 1 | BeFree |
umls:C1842981 | NEUROTICISM | 1 | BeFree |
umls:C1852581 | EPILEPSY, BENIGN NEONATAL, 2 | 1 | BeFree |
umls:C2911647 | Weight Gain Adverse Event | 1 | GAD |
umls:C4042891 | Sleep Wake Disorders | 1 | CTD_human |
umls:C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 0 | CTD_human |